Canonical Allele Identifier: CA397434593
Gene: SPG7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89554490C>A , CM000678.2:g.89554490C>A GRCh38
NC_000016.9:g.89620898C>A , CM000678.1:g.89620898C>A GRCh37
NC_000016.8:g.88148399C>A NCBI36
NG_008082.1:g.51094C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000268704.7:c.2087C>A ENSP00000268704.3:p.Ala696Glu
ENST00000561702.6:n.2780C>A
ENST00000565891.2:c.5C>A ENSP00000495004.1:p.Ala2Glu
ENST00000566682.2:c.1149C>A ENSP00000461979.2:n.1149C>A
ENST00000569720.2:n.791C>A
ENST00000569820.6:c.2381C>A
ENST00000642226.1:n.2171C>A
ENST00000642334.1:c.3526C>A
ENST00000642814.1:n.1523C>A
ENST00000642984.1:n.1831C>A
ENST00000643105.1:c.2814C>A
ENST00000643350.1:n.1522C>A
ENST00000643409.1:n.2533C>A
ENST00000643496.1:n.1925C>A
ENST00000643649.1:c.1997C>A ENSP00000494806.1:p.Ala666Glu
ENST00000643668.1:c.*2402C>A ENSP00000494903.1:n.*2402C>A
ENST00000643724.1:c.*1156C>A ENSP00000496335.1:n.*1156C>A
ENST00000643954.1:c.3007C>A
ENST00000644171.1:n.2868C>A
ENST00000644210.1:c.*680C>A ENSP00000495675.1:n.*680C>A
ENST00000644225.1:n.2125C>A
ENST00000644281.1:n.2792C>A
ENST00000644464.1:n.761C>A
ENST00000644498.1:c.*1927C>A ENSP00000496244.1:n.*1927C>A
ENST00000644671.1:c.1765C>A
ENST00000644751.1:c.1296C>A
ENST00000644781.1:c.2063C>A ENSP00000495473.1:p.Ala688Glu
ENST00000644901.1:c.*2502C>A ENSP00000493797.1:n.*2502C>A
ENST00000645042.1:c.*882C>A ENSP00000493908.1:n.*882C>A
ENST00000645063.1:c.2108C>A ENSP00000493590.1:p.Ala703Glu
ENST00000645354.1:c.2868C>A
ENST00000645392.1:n.2449C>A
ENST00000645742.1:n.742C>A
ENST00000645818.2:c.2108C>A MANE Select ENSP00000495795.2:p.Ala703Glu
ENST00000645842.1:n.1953C>A
ENST00000645886.1:c.1613C>A
ENST00000645897.1:c.1646C>A ENSP00000495293.1:p.Ala549Glu
ENST00000645952.1:n.1973C>A
ENST00000645977.1:n.3226C>A
ENST00000646005.1:n.1866C>A
ENST00000646263.1:c.*981C>A ENSP00000494119.1:n.*981C>A
ENST00000646303.1:c.1976C>A ENSP00000494160.1:p.Ala659Glu
ENST00000646399.1:c.3002C>A
ENST00000646445.1:c.966C>A
ENST00000646531.1:c.*731C>A ENSP00000495185.1:n.*731C>A
ENST00000646589.1:c.*1236C>A ENSP00000494739.1:n.*1236C>A
ENST00000646716.1:c.1160C>A ENSP00000495593.1:p.Ala387Glu
ENST00000646826.1:c.*781C>A ENSP00000495123.1:n.*781C>A
ENST00000646930.1:c.*2037C>A ENSP00000495219.1:n.*2037C>A
ENST00000647032.1:c.1739C>A
ENST00000647079.1:c.1700C>A ENSP00000495967.1:p.Ala567Glu
ENST00000647123.1:n.2065C>A
ENST00000647227.1:c.1746C>A
ENST00000647302.1:n.2758C>A
ENST00000647476.1:n.995C>A
ENST00000647491.1:n.1852C>A
ENST00000268704.6:c.2108C>A ENSP00000268704.2:p.Ala703Glu
ENST00000561702.5:n.1093C>A
ENST00000561911.5:c.708C>A ENSP00000457387.1:n.708C>A
ENST00000566682.1:c.244C>A
ENST00000569720.1:n.299C>A
ENST00000569820.5:c.1350C>A
ENST00000620811.4:c.*154C>A ENSP00000478030.1:n.*154C>A
NM_003119.3:c.2108C>A NP_003110.1:p.Ala703Glu
XM_006721264.2:c.2108C>A XP_006721327.1:p.Ala703Glu
NM_001363850.1:c.2108C>A NP_001350779.1:p.Ala703Glu
XM_006721264.4:c.2108C>A XP_006721327.1:p.Ala703Glu
XR_001751971.2:n.2457C>A
XR_001751972.2:n.3744C>A
NM_003119.4:c.2108C>A MANE Select NP_003110.1:p.Ala703Glu